The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients

Ginkel, Willem G. van; Reemst, Hannah E van; Kienstra, Nienke S; Daly, Anne; Rodenburg, Iris L; MacDonald, Anita; Burgerhof, Johannes G. M.; Blaauw, Pim de; Krogt, Jennifer van de; Santra, Saikat; Heiner‐Fokkema, M. Rebecca; Spronsen, Francjan J. van

doi:10.3390/nu11112816

Cited by 6 publications

(6 citation statements)

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“…24 En el cuadro 2 se describen las dosis de medicamentos y suplementos que se utilizan actualmente en algunos EIMi. 8,10,19,[25][26][27][28][29][30][31][32][33] En el cuadro 3 10,11,16,28,29,[34][35][36][37] se describen las metas bioquímicas esperadas con el tratamiento de pacientes con diferentes EIMi en el seguimiento, estos valores se han ido modificando con el tiempo con base en evidencias tales como estudios retrospectivos, casos clínicos, cohortes y, en algunos casos, meta-análisis; además, expertos han realizado guías de manejo o prácticas clínicas en un intento por hacer uniforme el manejo y las metas bioquímicas. 10,11,32 Por ejemplo, en los pacientes con fenilcetonuria las concentraciones sanguíneas de fenilalanina recomendadas, eran diferentes dependiendo del grupo de edad, actualmente existe evidencia que señala la necesidad e importancia de mantener dichas concentraciones sanguíneas entre 120-360 mol/L para todos los grupos de edad, 34 dados los déficits y problemas neurológicos que los pacientes adolescentes y adultos presentaban, 38 así como para prevenir la fenilcetonuria materna.…”

Section: Tratamiento De Los Eimiunclassified

“…Atrofia girata Piridoxina 300-500 mg/día 12,13,14 Acidemia Fenilalanina 27 20 mg/kg/d En caso de valores de fenilalanina por debajo de 30 mmol/l.…”

Section: Error Innato Del Metabolismo Vitamina O Cofactor Dosisunclassified

“…Principales errores innatos del metabolismo intermedio y medicamentos, suplementos más comunes utilizados actualmente en su tratamiento 8,10,19,[25][26][27][28][29][30][31][32][33]. (continúa en la siguiente página)…”

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Seguimiento bioquímico y dosis de medicamentos de EIM del metabolismo intermedio

et al. 2023

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Los errores innatos del metabolismo intermedio (EIMi) son un grupo heterogéneo de enfermedades monogénicas pertenecientes al grupo de las enfermedades raras (ER), que afectan vías metabólicas de la síntesis o catabolismo de los hidratos de carbono, aminoácidos o lípidos.1 Estas enfermedades conllevan anormalidades bioquímicas que pueden cuantificarse en diferentes fluidos biológicos, lo que permite su diagnóstico.

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Section: Tratamiento De Los Eimiunclassified

“…Atrofia girata Piridoxina 300-500 mg/día 12,13,14 Acidemia Fenilalanina 27 20 mg/kg/d En caso de valores de fenilalanina por debajo de 30 mmol/l.…”

Section: Error Innato Del Metabolismo Vitamina O Cofactor Dosisunclassified

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Seguimiento bioquímico y dosis de medicamentos de EIM del metabolismo intermedio

et al. 2023

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“…Tyrosinemia type 1 (OMIM # 276700) is a rare autosomal recessive disorder of the tyrosine degradation pathway, resulting in the accumulation of toxic metabolites (succinyl acetone) that are substrates for fumarylacetoacetate hydrolase, i.e., the enzyme that is deficient. The clinical manifestations vary and include neonatal cholestasis with acute liver failure, hepatocellular carcinoma, growth retardation, renal dysfunction, and porphyria-like syndrome with neuropathy [ 102 ]. The current specific treatment consists of 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC) paired with a tyrosine- and phenylalanine-restricted diet Many commercial products containing tyrosine- and phenylalanine-free amino acid mixtures and supplemented with vitamins and minerals are available [ 103 ].…”

Section: Special Diets In Some Common or Special Iem Causing Cholestasismentioning

confidence: 99%

Malnutrition in Pediatric Chronic Cholestatic Disease: An Up-to-Date Overview

et al. 2021

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Despite recent advances, the causes of and effective therapies for pediatric chronic cholestatic diseases remain elusive, and many patients progress to liver failure and need liver transplantation. Malnutrition is a common complication in these patients and is a well-recognized, tremendous challenge for the clinician. We undertook a narrative review of both recent and relevant older literature, published during the last 20 years, for studies linking nutrition to pediatric chronic cholestasis. The collected data confirm that malnutrition and failure to thrive are associated with increased risks of morbidity and mortality, and they also affect the outcomes of liver transplantation, including long-term survival. Malnutrition in children with chronic liver disease is multifactorial and with multiple potential nutritional deficiencies. To improve life expectancy and the quality of life, patients require careful assessments and appropriate management of their nutritional statuses by multidisciplinary teams, which can identify and/or prevent specific deficiencies and initiate appropriate interventions. Solutions available for the clinical management of these children in general, as well as those directed to specific etiologies, are summarized. We particularly focus on fat-soluble vitamin deficiency and malnutrition due to fat malabsorption. Supplemental feeding, including medium-chain triglycerides, essential fatty acids, branched-chain amino acids, and the extra calories needed to overcome the consequences of anorexia and high energy requirements, is reviewed. Future studies should address the need for further improving commercially available and nutritionally complete infant milk formulae for the dietary management of this fragile category of patients. The aid of a specialist dietitian, educational training regarding nutritional guidelines for stakeholders, and improving family nutritional health literacy appear essential.

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“…To reduce blood tyrosine to an accepted treatment range of 200 to 400 µmol/L [ 3 ], a lifelong phenylalanine/tyrosine-restricted diet supplemented with a phenylalanine/tyrosine-free protein substitute is recommended. Additional phenylalanine supplementation is commonly necessary [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I

et al. 2021

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Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supplemented with a Tyr/Phe-free protein substitute (PS). Casein glycomacropeptide (CGMP), a bioactive peptide, is an alternative protein source to traditional amino acids (L-AA). CGMP contains residual Tyr and Phe and requires supplementation with tryptophan, histidine, methionine, leucine, cysteine and arginine. Aims: a 2-part study assessed: (1) the tolerance and acceptability of a low Tyr/Phe CGMP-based PS over 28 days, and (2) its long-term impact on metabolic control and growth over 12 months. Methods: 11 children with HTI were recruited and given a low Tyr/Phe CGMP to supply all or part of their PS intake. At enrolment, weeks 1 and 4, caregivers completed a questionnaire on gastrointestinal symptoms, acceptability and ease of PS use. In study part 1, blood Tyr and Phe were assessed weekly; in part 2, weekly to fortnightly. In parts 1 and 2, weight and height were assessed at the study start and end. Results: Nine of eleven children (82%), median age 15 years (range 8.6–17.7), took low Tyr/Phe CGMP PS over 28 days; it was continued for 12 months in n = 5 children. It was well accepted by 67% (n = 6/9), tolerated by 100% (n = 9/9) and improved gastrointestinal symptoms in 2 children. The median daily dose of protein equivalent from protein substitute was 60 g/day (range 45–60 g) with a median of 20 g/day (range 15 to 30 g) from natural protein. In part 2 (n = 5), a trend for improved blood Tyr was observed: 12 months pre-study, median Tyr was 490 μmol/L (range 200–600) and Phe 50 μmol/L (range 30–100); in the 12 months taking low Tyr/Phe CGMP PS, median Tyr was 430 μmol/L (range 270–940) and Phe 40 μmol/L (range 20–70). Normal height, weight and BMI z scores were maintained over 12 months. Conclusions: In HTI children, CGMP was well tolerated, with no deterioration in metabolic control or growth when studied over 12 months. The efficacy of CGMP in HTI needs further investigation to evaluate the longer-term impact on blood Phe concentrations and its potential influence on gut microflora

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The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients

Cited by 6 publications

References 24 publications

Seguimiento bioquímico y dosis de medicamentos de EIM del metabolismo intermedio

Seguimiento bioquímico y dosis de medicamentos de EIM del metabolismo intermedio

Malnutrition in Pediatric Chronic Cholestatic Disease: An Up-to-Date Overview

Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I

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